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Recent Webinars

Invitae exome interpretation: Leading with science and innovation to bring exomes to scale (for Asia/Pacific time zones)

Heather McLaughlin and Amy Knight-Johnson
February 23, 2021
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It’s challenging to do exome sequencing well, but with the right combination of clinical expertise and leading-edge technology, it’s possible to achieve comprehensive, reproducible, and accurate results. 
 
But that’s not enough, as changes, such as the publication of new gene-disease associations or the development of new clinical findings, often occur. To ensure you always have the most recent results—without any extra work on your part—we’re providing continual, automatic re-analysis.

This webinar will help you:

  • recognize current challenges of clinical exome sequencing for rare genetic disorders
  • summarize how Invitae is addressing these challenges through its variant interpretation processes and its recent acquisition and integration of Diploid’s Moon and Apollo software
  • compare and contrast variant re-evaluation and case-level reanalysis definitions and processes.

Stand by for launch: An in-depth look at the data from an RNA analysis pilot study

Sarah Garcia, PhD, MS, CGC and Keith Nykamp, PhD
February 17, 2021
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The utility of RNA analysis to uncover etiologies of hereditary disease is an active area of investigation. While there are studies showing some benefits of RNA analysis for variant detection and classification, there are important complexities to consider when implementing this technology into clinical laboratory practices.

This webinar will help genetic counselors and healthcare providers understand RNA analysis in variant detection and variant classification, its benefits, and potential limitations.

Learning objectives:

  1. Evaluate the role of RNA analysis in variant detection and variant classification.
  2. Review current guidelines involving the use of RNA data in variant classification
  3. Examine RNA data from a pilot study.

Invitae exome interpretation: Leading with science and innovation to bring exomes to scale

Heather McLaughlin and Amy Knight-Johnson
January 12, 2021
View Recording

At Invitae, we understand that you always want the most accurate, up-to-date information about your patient’s exome—without extra work required on your part. Every six months (for a period of three years from the exome report date), Invitae now automatically runs an expert, case-level reanalysis of your patient’s exome.

How are we able to do this? Invitae recently integrated Moon, an intelligent software engine into our exome platform. Moon allows for more efficient, comprehensive, and personalized exome sequencing. 

Learning objectives:

  • Recognize current challenges of clinical exome sequencing for rare genetic disorders.
  • Summarize how Invitae is addressing these challenges through its variant interpretation processes and its recent acquisition and integration of Diploid’s Moon and Apollo software.
  • Compare and contrast variant re-evaluation and case-level reanalysis definitions and processes.

Variant interpretation 101: Back to basics

Sara Garcia, PhD, MS, CGC
October 08, 2020
View Recording

Variant interpretation is a critical component of the next-generation sequencing genetic testing process. While there are many complexities to variant interpretation (VI), this webinar will focus on the basic building blocks of VI. This webinar will help genetic counselors, researchers, laboratorians, and other healthcare providers understand the past, present and future of state of VI.

Learning objectives:

1) Summarize the ACMG/AMP variant classification standards.
2) Examine how Invitae performs variant interpretation.
3) Hypothesize how variant interpretation will evolve.


Challenging variant types detected by NGS and their contribution to monogenic disease

Swaroop Aradhya, PhD, FACMG; Dianalee McKnight, PhD, FACMG
September 29, 2020
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This webinar for AUS, NZ, and APAC time zones will help you:

1. define the types and prevalence of variants that are challenging to detect by next-generation sequencing.

2. examine aspects of clinical genetic test design that can aid in the accurate detection of challenging variants.


The importance of rapid genetic testing in the pre-operative setting for Canadian breast cancer cases

Jory Simpson, MD, Assistant Professor of Surgery, St. Michael's Hospital & University of Toronto
August 12, 2020
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O cenário das mutações germinativas do câncer hereditário no Brasil: Quem deve ser testado?

Maria Isabel Waddington Achatz, MD, MSc, PhD (Coordenadora médica, Unidade de Oncogenética, Centro de Oncologia, Hospital Sírio-Libanes)
August 05, 2020
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O uso de testes genéticos e painéis multigênicos para auxiliar na caracterização e identificação de pacientes com câncer hereditário na América Latina está aumentando. Os resultados podem revelar quão rapidamente o câncer pode progredir; identificar mutações germinativas que informam tratamento ou intervenção cirúrgica; e até mesmo qualificar pacientes para ensaios clínicos.


Prostate cancer: An emerging area of importance for genetics professionals

Veda Giri, MD (Sidney Kimmel Cancer Center), Brittany Szymaniak, PhD, CGC (Northwestern Medicine)
July 23, 2020
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It’s becoming more and more clear that germline genetics play an important role in a significant proportion of prostate cancers.

The webinar will help you:
1. Recognize the general pathology, diagnostic and treatment considerations for prostate cancer.
2. Examine the guidelines for germline genetic testing related to prostate cancer.
3. Summarize genetic counseling considerations for men with prostate cancer.
4. Identify collaborative patient care opportunities for genetic counselors, urologists and medical oncologists.


Pruebas de Portadores simplificadas

Ariadna Martínez, MS, CGC (Invitae)
July 21, 2020
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En este webinar, presentado por la consejera genética Ariadna Martínez usted podrá:

1. Aprender cómo las pruebas de portadores ayudan a pacientes, embarazadas o que están pensando en embarazarse, a entender la probabilidad de tener un hijo con una alteración genética específica y para proveer información útil sobre los siguientes pasos de su vida reproductiva.

2. Revisar las opciones de cómo ordenar las pruebas de forma personalizada, con opciones de analizar más de 288 genes. Algunos puntos clave son:

- Precio de $250 USD para el paciente
- Precio de $100 USD para su pareja
- Resultados en 10 a 21 días en promedio

3. Revisar las opciones que tiene Invitae de Telemedicina, las cuales ayudan a pacientes y proveedores de servicios de salud a tener acceso a pruebas genéticas de forma remota durante la pandemia actual.


Innovación en la interpretación de variantes genéticas

Daniel Pineda MD, FACMG (Invitae)
July 15, 2020
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Este webinar está dirigido a genetistas, consejeros genéticos y otros profesionales de la salud interesados en la interpretación de variantes y su clasificación, en donde:

1. Describir los retos fundamentales en la interpretación de variantes.
2. Discutir las guías de interpretación del Colegio Americano de Genética Médica (ACMG) y de la Asociación de Patología Molecular (AMP) de EUA.
3. Presentarle cómo Invitae realiza la interpretación de variantes incluyendo modelos funcionales robustos, cuantitativos y escalables.